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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

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

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

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

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

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

Deficient in Hydroxyphenyl pyruvate oxidase
CHLORINE SMELL OF URINE, acidemia

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

Deficient in Pyrroline-5-carboxylate reductase (P5CR)
Wrinkled skin, joint laxity, mental retardation

Deficiency in ability to transport COLA (Cys, Orn, Lys, Arg)
Symptoms: Kidney stones, large volume of neutral-alkaline urine

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)

Glycerophospholipid found in inner men of mitochondria- maintains respiratory complexes of ETC. May become antigenic by ab raised against Syphillis infections.

Synthesized by peroxisomes. Synthesizes myelin.

Dipalmitoylphosphatidylcholine

major component of surfactant secreted by pneumocytes.

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