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Metabolism Diseases

Terms in this set (54)

Zellwegger's Syndrome
Non formation of peroxisomes
Build up of VLCFA
Symptoms: Demyelination, polycistic kidneys. chondral calcification, increased serum Fe & Cu, Cerebrohepatalrenal syndrome
Death by 6 mos
Adrenoleukodystrophy
Deficiency in ABCD1 transporter
Build up of LCFA & VLCFA
Symptoms: demyelination, severe neurologic deficits, diabetic retinopathy, seizures, ataxia, Addison's disease.
Death in adolescence
Refusm' Disease
Deficiency in Phytanic acid oxidase
Accumulate Phytanic Acid
Symptoms: Retinitis pigmentosa, cataracts, short 4th/5th toes, peripheral neuropathy, ataxia, hearing loss, icthyiosis
Propionic acidemia (Deficiency of Propionyl coA Carboxylase)
ketoacidosis, pancytopenia, hypogammaglobunemia, protein intolerance, vommiting
Methylmalonic aciduria (cbl type)
Problem with vitamin B12 Transport
Symptoms: Demyelinization, acidosis, lactate in CSF
Megaloblastic anemia present
Acyl-coA DH Deficiency SCAD
Metabolic acidosis, failure to thrive, developmental delay, seizures, myopathy
NO HYPOLYCEMIA present
Mitochondrial TFP Deficiency
Long chain enoyl-CoA hydratase + LC hydroxyacyl-CoA DH (LCHAD) + thiolase deficiency.
Symptoms: Neonatal liver failure, damage to muscle, retina & PNS. Preterm delivery
Acute fatty liver of pregnancy & HELLP syndrome (hemolysis,↑ liver enz, ↓platelets)
Methylmalonic aciduria (mut-type)- deficiency in Methylmalonyl coA mutase
Demyelinization, acidosis, lactate in CSF
Synth of branched-chain FA → PM destabilized, competitive inhib. succinate DH, no Val, Ile, Met --> NO anemia present
Acyl-coA DH Deficiency MCAD
Fasting/ stress hypoglycemia, exercise intolerance, fatty liver, Δ mitoch structure, encephalopathy, SIDS
Acyl-coA DH Deficiency LCAD
Rare disease. Accumulation of LCFA seen in blood as well as acyl coA
Acyl-coA DH Deficiency VLCAD
Cardiomyopathy, non-ketotic hypoglycemia, hepatic dysfunction, skeletal myopaty. SIDS w/ hepatic steatosis.
Pyruvate Carboxylase deficiency (North American Type)
Lactic, pyruvate & Ala acidemia; severe mental, psychomotor, & developmental retardation
Tx: thiamine, lipoate + dichloroacetate
Pyruvate Carboxylase deficiency
(French-Canadian Type)
Resp. distress; ↑ serum lactate, ammonia, citrulline, Pro, & Lys; IC redox disturbance (cytosol more red. & mitoch more ox.)
Cystic periventricular leukomalacia on cerebral ultrasound
Death by 3 mos
Pyruvate Carboxylase deficiency
(Benign Type)
Episodes of metabolic acidosis (↑ lactate, pyruvate, Ala, β-hydroxy-butyrate, acetoacetate, Lys, Pro). Anemia w/ ↑ reticulocytes (and acanthocytes), ↑ 2,3-BPG

Tx: rehydration + bicarb. For acidosis
R-shift: O2 binding curve
Systemic primary Carnitine deficiency
Build up of FA in blood
Hypokinetic hypoglycemia, Reye syndrome episodes, lethargy, somnolence, hepatomegaly, cardiomegaly
Carnitine palmitoyl-transferase I deficiency
Hypokinetic hypoglycemia, Reye syndrome episodes, hepatomegaly, muscle weakness
Carnitine-acylcarnitine translocase deficiency
Bradycardia, breathing problems, hypokinetic hypoglycemia, muscle weakness, hyperammonemia, hepatomegaly, seizures, cardiomyopathy, SIDS
Presents w/in hours of birth
Carnitine palmitoyl-transferase II deficiency (ADULT)
Myalgia, rhabdomyolysis, & myglobinuria (muscle problems) occuring ONLY w/ exercise, fasting, high-fat diet, or infection
(otherwise normal!)
More common in males
Carnitine palmitoyl-transferase II deficiency (INFANTILE)
LCFA accumulated in mitochondria
Seizures, loss of consciousness, hypokinetic hypoglycemia, cardiomegaly, hepatomegaly
Carnitine palmitoyl-transferase II deficiency (NEONATE)
LCFA accumulated in mitochondria
Cardiac, resp, or liver failure (fatal), neuronal migration defects, kidney disorganization
Tay Sachs
Deficient in Hexoaminidase A
Build up of GM2 ganglioside
Symptoms: Cherry-red macula, mental retardation, muscle weakness, blindness, seizures. Die w/in 1st yr of life
Sandhoff disease
Deficient in Hexosiminidase A & B
Build up GM2 & Globosides
Symptoms: Macrocephaly, cherry-red macula, motor weakness, early blindness, seizures
Fabry disease
X-linked Disease
Deficient in a-Galactosidase A
Accumulate Globosides (ceramide trihexoside)
Symptoms: Kidney + heart failure (or stroke), Red-purple rashes, burning sensation in hands
Gaucher Disease
Deficient in B-Glucosidase
Accumulate Glucocerebroside

Hepatosplenomegaly (all types)
Osteoperosis, skeletal disorders (type 1)
Mental retardation (types 2 & 3)
Neimann- Pick Disease
Deficient in sphingomyelinase
Accumulate sphingomyelin
Symptoms: Neurodegenerative
Type A: jaundice, hepatomegaly (large liver), profound brain damage (infantile)
Type B: large liver & spleen (teens)
Types C/D: moderately large liver & spleen, extensive brain damage (adults)
Metachromatic Leukodystrophy (MLD)
Deficient in Arlsulfatase
Accumulate sulfatides
Progressive paralysis: difficulty walking, muscle wasting & weakness, impaired swallowing
Blindness, convulsions, dementia (infants/ juveniles), psychiatric disorders (adults)
Krabbes Disease
Deficient in B-galactosidase
Accumulate Galactocerebroside
Symptoms: Mental & motor deterioration, irritability, fever, seizures, vomiting, feeding difficulties, muscle weakness, deafness/ blindness, Globoid cells seen in white matter
Farber Disease
Deficient in Ceraminidase
Accumulate Ceramide
Symptoms: Impaired mental & motor ability, difficulty swallowing, arthritis, swollen lymph nodes & joints, hoarseness
Orotic Aciduria
X-linked disease
Deficient in Ornithine Transcarbomoylase
Build up pyrimidines
Hyperammonemia
Carbamoyl Phosphate Synthetase I def.
Build up of NH4
Lethargy, coma, Reye-Syndrome Like encephalopathy
Citrullinemia
Deficiency in Arginosuccinate synthesase
Urea cycle
Argininosuccinate aciduria
Deficient in Argininosuccinate
Lyase
Arginase Deficiency
Progressive spastic quadriplegia, mental retardation
May ↑ w/ Shope papilloma virus
Non-ketotic hyperglycinemia
Glycine cleavage enzyme
Build up of glycine
May occur due to a B6 Deficiency
Severe mental deficiency
Homocystenuria
Due to deficiency in Cystathione B-synthase or B12
Def CBS- Lens dislocation, bone elongation, severe mental retardation, osteoporosis, thrombosis
B12 deficiency- Megaloblastic anemia
Oasthouse disease
Deficient in Methionine-transporter for uptake into intestine
Met digested by bacteria into
a-hydroxybutyrate & excreted in urine.
Symptoms: Urine smells of dry hops, white hair, convulsions, mental retardation, diarrhea, tachypnea
Maple Syrup Disease
Deficient in branched chain a-ketoacid DH
(enzyme requires thiamine!)
Accumulate Leu, Ile, Val
Symptoms:SWEET SMELLING URINE (from Sotolone), metabolic acidosis, optic atrophy , AHDS, axial hypotonia, exertional fatigue, mental retardation, ataxia, hypoglycemia, ↑ liver enz & br-chain AA in serum, abdominal pain
Phenylketouria (PKU)
Deficient in Phenylalanine hydroxylase
Mousy smelling urine
*Diaper Test - turns blue, mental retardation, seizures, spasticity
Tyrosine becomes an essential aa
Occulocutaneous albinism
Deficiency in tyrosinase and accumulation of tyrosine
lack pigmentation
Tyrosinemia type I
Deficient in Fumarylacetoacetate Hydrolase
Symptoms: CABBAGE-LIKE SMELL,
Liver cirrhosis & cancer, liver & kidney failure, jaundice
Tyrosinemia type II
Deficient in Tyrosine Aminotransferase
Keratoderma (skin), defects in skin, brain & eyes
Tyrosinemia type III
Deficient in Hydroxyphenyl pyruvate oxidase
Accumulate tyrosine
Mild mental retardation and ataxia
Hawksinuria
Deficient in Hydroxyphenyl pyruvate oxidase
CHLORINE SMELL OF URINE, acidemia
Alkaptonuria
Deficient in Homogenitase oxidase
BLACK URINE, ochronosis (pigment in tissues, eg. heart valves), arthritis
Hyperlysinemia & Hyperlysinuria
Deficient in Saccharopine DH
Mental & physical retardation
Habitual excretion of FIGLU
Benign deficiency in Glutamate formimino transferase
Cutis Laxa
Deficient in Pyrroline-5-carboxylate reductase (P5CR)
Wrinkled skin, joint laxity, mental retardation
Cystinuria
Deficiency in ability to transport COLA (Cys, Orn, Lys, Arg)
Symptoms: Kidney stones, large volume of neutral-alkaline urine
Cystinosis
Deficient in Cys/H+ symporter OUT OF lysosome in all organs
Symptoms: Cysteine crystals in cornea, retinal blindness, Fancony syndrome + rickets (kidney destruc. w/ ↓ Vit. D, Ca, Pi), pancreatic insuff., cerebral atrophy w/ ↓IQ, hypo-thyroidism, myopathy, ↓ pigment
Lysinuric protein intolerance
Deficiency in transoprter for dibasic aa's on basolateral side of intestinal cell.
Symptoms: Hyperammonemia, orotic aciduria, osteopenia, osteoporosis, ↑ risk for systemic amyloidoses
Hartnup disease
Deficiency in the transporter for Lg, neutral aa (esp Trp)
Symptoms: ↑ susceptibility to Pellagra b/c of Trp deficiency- niacin needs to be supplemented
Mild encephalopathy (insufficient myelin formation)
Cardiolipin
Glycerophospholipid found in inner men of mitochondria- maintains respiratory complexes of ETC. May become antigenic by ab raised against Syphillis infections.
Plasmalogen
Synthesized by peroxisomes. Synthesizes myelin.
Dipalmitoylphosphatidylcholine
major component of surfactant secreted by pneumocytes.
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