Metabolic Diseases Flashcards
Ferric Chloride Test
Alkaptonuria: Homogentesic Acid MSUD
Melanoma: Melanin
PKU
Ammoniacal Silver Nitrite
Alkaptonuria: Homogentesic Acid
Benedict’s Test
Alkaptonuria: Homogentesic Acid
Nitrosonaphthol Test
Tyrosinuria
Hoesch Test
Porphyria: Porphobilinogen
Watson-Schartz Test
Porphyria: Porphobilinogen
Actively involved in the metabolism of Amino Acids
LIVER AND KIDNEY
This is the Interconvertion of an Amino Acid
TRANSAMINATION
This is the Degradation of an Amino Acid
DEAMINATION
Amino Acid→results in formation of ___________ →this AI is used to form → ______
AMMONIUM IONSS
UREA
This is subsequently eliminated from the body by the kidneys
Urea
Cause: Increase in the plasma levels of Amino Acid
Renal Threshold for Amino Acid reabsorption: Exceeded→Additional AA are excreted in the urine
Overflow Aminoaciduria
Amino Acid not reabsorbed by the tubules ↑Blood = ↑Urine
No-Threshold Aminoaciduria
Plasma levels of Amino Acid: Normal Cause: Defect in tubules [congenital / acquired]→not reabsorbed by the tubules = ↑ amount in urine
Renal Aminoaciduria
a.k.a. Inborn Error of Metabolism
Results from: Inherited Defect
PRIMARY AMINOACIDURIA
2 Types of Defects of PRIMARY AMINOACIDURIA:
- Enzymes id Defective / Deficient in the SPECIFIC AMINO ACID Metabolic Pathway
- Tubular Reabsorptive Dysfunction
Induced by: Severed Liver Disease or Generalized Tubular Dysfunction [e.g. Fanconi Syndrome]
SECONDARY AMINOACIDURIA
MOI: Autosomal Recessive
Lysosomal Storage Disease→results in→Deposition of Cystine in the Lysosomes of cells throughout the body [Kidneys, Eyes, Bone Marrow and Spleen]
CYSTINOSIS
What are the 3 Distinct Types of CYSTINOSIS?
NEPHROTIC CYSTINOSIS
INTERMEDIATE CYSTINOSIS
OCULAR CYSTINOSIS
Most common and severe form
Accumulated CYSTINE crystallizes within the PROXIMAL TUBULAR CELLS of the nephrons → Causing → Generalized TUBULAR Dysfunction → Development of FANCONI Syndrome
Evident: 1st Year of Life
NEPHROTIC CYSTINOSIS
Rare Form
Clinical Features: Same with Nephrotic Cystinosis
Evident: Adolescence
INTERMEDIATE CYSTINOSIS
Rare Form
Cystine Deposition in the CORNEA → Ocular Impairment
OCULAR CYSTINOSIS
MOI: Autosomal Recessive
Due to: Nephrones [PTC] = Unable to Reabsorb Amino Acid
▪ Cysteine
▪ Dibasic Amino Acid e.g. Arginine, Lysine, Ornithine
CYSTINURIA
Dibasic Amino Acid e.g. are?
Arginine, Lysine, Ornithine
MOI: Autosomal Recessive
Accumulation of Branched-chain Amino Acid [Leucine, Isoleucine, Valine] and their corresponding Alpha keto acid in:
▪ Blood
▪ Urine
▪ CSF
MAPLE SYRUP URINE DISEASE
Deficient Enzyme in MAPLE SYRUP URINE DISEASE:
Branched Chain Alpha Keto Acid Dehydrogenase [BCKD]
MOD: Autosomal Recessive
↑ Urinary excertion of PHENYLPYRUVIC ACID [a ketone] and its metabolites
Deficient Enzyme: Phenylalanine Hydroxylase
Urine, Sweat, and Breath: Characteristic Mousy / Musty Odor→Caused by→Phenylacetic Acid
PHENYLKETONURIA
MOI: Autosomal Recessive
Excertion of large amount of HOMOGENTISIC ACID (HGA) in the urine
Unusual darkening of the urine when ALKALI is added
Deficient Enzyme: Homogentisic Acid Oxidase
ALKAPTONURIA
↑ Amount of TYROSINE in the urine → occurs when → Tyrosine levels in Plasma is abnormally ↑
TYROSINURIA
↑ production of Melanin and its colorless precursorsors [5,6-dihydroxyindole]
Melanuria [↑ excretion of urinary melanin]
This a defective melanin production
Hypomelanosis / Albinism
CARBOHYDRATE DISORDERS
DIABETES MELLITUS
DIABETES INSIPIDUS
GALACTOSEMIA
“________” → Copious amount of urine [Polyuria] that this disorder produces
Diabetes
“________”→Means SWEET
Mellitus
This is called when there is a presence of Glucose in the urine
Polyuria
This carbohydrate disorder has a high specific gravity.
DIABETES MELLITUS
“_________” → Refers to BLAND TASTE of urine produced
Insipidus
This carbohydrate disorder has a low specific gravity.
DIABETES INSIPIDUS
Enzymes Responsible for Galactosemia:
▪ Galactose 1-phosphate uridylytransferase [GALT]
▪ Galactokinase [GALK]
▪ Uridine Diphosphate Galactose-4-Epimerase [GALE]
This indicate the inability to properly metabolize galactose to glucose
GALACTOSURIA
